Best vitelliform macular dystrophy: clinical case report

Abstract

We report a case of Best vitelliform macular dystrophy (BVD) in an 8-year-old boy complaining of reduced visual acuity in both eyes for several months. His bestcorrected visual acuity in the right eye was 0.6 and 0.3 in the left eye. Ophthalmoscopy of the right eye revealed a big yellow macular lesion surrounded by few smaller lesions with clear content and moderate edema in the central part of the retina (similar to BVD "scrambled egg" stage). In his left eye, we found a big round lesion with clear liquid boundary in the central part of the retina (similar to BVD pseudohypopyon stage). In the electro-oculogram Arden index of the right eye was 0.78 and 0.7 of the left eye (normal more than 1.8 (if <1.8; typical to BVD). We found a heterozygous mutation in exon 7 of the BEST1 gene (c.728A>T p.D243V), and conclude that the patient is very likely to suffer from BVD due to a mutation in the BEST1 gene. There were no detected mutations of the BEST1 gene in patient's both parents. We only observe this patient every 6 months because there is no causal treatment for this disorder yet.